maple syrup urine disease (MSUD)
Maple syrup urine disease (MSUD) is a rare genetic disorder that affects the body's ability to break down certain amino acids, specifically leucine, isoleucine, and valine. These amino acids are found in protein-rich foods. When not properly metabolized, they can build up in the body, leading to serious health issues.
Symptoms of MSUD often appear in infancy and may include poor feeding, vomiting, and a distinctive sweet-smelling urine, reminiscent of maple syrup. Early diagnosis and treatment are crucial to manage the condition, which may involve a special diet low in these amino acids and regular medical monitoring.